INTEGRATIVE ‘OMIC’ APPROACH TOWARDS
UNDERSTANDING THE NATURE OF HUMAN DISEASES Peterlin B*, Maver A *Corresponding Author: Professor Borut Peterlin, M.D., Ph.D., Institute of Medical Genetics, Department
of Gynecology and Obstetrics, University Medical Centre Ljubljana, 3, Šlajmerjeva Street, Ljubljana 1000,
Slovenia; Tel./Fax: +386(0)1-540-1137; E mail: borut.peterlin@guest.arnes.si page: 45 download article in pdf format
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Abstract
The combination of improving technologies
for molecular interrogation of global molecular
alterations in human diseases along with increases
in computational capacity, have enabled unprecedented
insight into disease etiology, pathogenesis
and have enabled new possibilities for biomarker
development. A large body of data has accumulated
over recent years, with a most prominent increase
in information originating from genomic, transcriptomic
and proteomic profiling levels. However, the
complexity of the data made discovery of highorder
disease mechanisms involving various biological
layers, difficult, and therefore required new
approaches toward integration of such data into a
complete representation of molecular events occurring
on cellular level.
For this reason, we developed a new mode of
integration of results coming from heterogeneous
origins, using rank statistics of results from each
profiling level. Due to the increased use of nextgeneration
sequencing technology, experimental information
is becoming increasingly more associated
to sequence information, for which reason we have
decided to synthesize the heterogeneous results using the information of their genomic position. We
therefore propose a novel positional integratomic
approach toward studying ‘omic’ information in human
disease.
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